Gene entry
EDNRB
endothelin receptor type B
- Chromosome
- 13
- Cytoband
- 13q22.3
- Variants (rsID)
- 6
EDNRB is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 13 (region 13q22.3). Its official name is “endothelin receptor type B”. The reference table lists 6 variants (rsID) for this gene.
Clinically classified variants
3 reference-table entries with clinical significance.
- rs1801710Conflicting interpretationssingle nucleotide variantHirschsprung disease, susceptibility to, 2
- rs5352Conflicting interpretationssingle nucleotide variantHirschsprung disease, susceptibility to, 2|Waardenburg syndrome type 4A|Waardenburg syndrome type 2A|Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant
- rs104894389Risk factorsingle nucleotide variantHirschsprung disease, susceptibility to, 2
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.